BRCA mutation

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

BRCA mutation
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Increased risk of breast cancer, ovarian cancer, prostate cancer, pancreatic cancer, melanoma
Complications	Cancer development
Onset	Varies, often detected in adulthood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in BRCA1 or BRCA2 genes
Risks	Family history of breast cancer or ovarian cancer, Ashkenazi Jewish ancestry
Diagnosis	Genetic testing
Differential diagnosis	Other hereditary cancer syndromes
Prevention	Prophylactic surgery, chemoprevention, lifestyle modification
Treatment	Surveillance, surgery, chemotherapy, radiation therapy
Medication	N/A
Prognosis	Varies depending on cancer development and treatment
Frequency	1 in 400 to 1 in 800 in the general population; 1 in 40 in Ashkenazi Jewish population
Deaths	N/A

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BRCA mutation

A BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumor suppressor genes. These genes produce proteins that help repair damaged DNA, playing a role in ensuring the stability of a cell's genetic material. When either of these genes is mutated, DNA damage may not be repaired properly, and cells are more likely to develop additional genetic alterations that can lead to cancer.

Types of BRCA Mutations

BRCA mutations can be inherited or acquired. Inherited mutations are passed from parents to their children and are present in all cells of the body. Acquired mutations occur in individual cells during a person's lifetime and are not passed on to the next generation.

BRCA1

The BRCA1 gene is located on chromosome 17. Mutations in this gene are associated with a higher risk of developing breast cancer, ovarian cancer, and other types of cancer.

BRCA2

The BRCA2 gene is located on chromosome 13. Mutations in this gene also increase the risk of breast and ovarian cancers, as well as other cancers such as pancreatic cancer and prostate cancer.

Associated Cancers

Individuals with BRCA mutations have a significantly increased risk of developing certain types of cancer. These include:

• Breast cancer
• Ovarian cancer
• Prostate cancer
• Pancreatic cancer
• Melanoma

Genetic Testing

Genetic testing for BRCA mutations can help identify individuals at high risk for developing cancer. This information can be used to make informed decisions about preventive measures, such as increased surveillance, prophylactic surgeries, or chemoprevention.

Management and Prevention

For individuals with BRCA mutations, several strategies can be employed to manage and reduce cancer risk:

• Enhanced screening protocols, including more frequent mammograms and MRI scans.
• Prophylactic surgeries, such as mastectomy and oophorectomy.
• Chemoprevention with medications like tamoxifen or raloxifene.

Implications for Family Members

Since BRCA mutations are hereditary, family members of individuals with these mutations may also be at increased risk. Genetic counseling and testing are recommended for family members to determine their risk and consider appropriate preventive measures.

See Also

• Breast cancer
• Ovarian cancer
• Genetic testing
• Tumor suppressor gene
• Prophylactic surgery

See also

• BRCA1
• BRCA2
• Breast cancer
• Ovarian cancer
• Genetic testing
• Tumor suppressor gene
• Prophylactic surgery

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